Canonical Allele Identifier: CA343155264

Gene: SELE FIRRM

Linked Data

• gnomAD v4: 1-169731927-G-T
• MyVariant Identifiers: chr1:g.169701068G>T (hg19) ; chr1:g.169731927G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731927G>T , CM000663.2:g.169731927G>T	GRCh38
NC_000001.10:g.169701068G>T , CM000663.1:g.169701068G>T	GRCh37
NC_000001.9:g.167967692G>T	NCBI36
NG_012124.1:g.7153C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333360.12:c.437C>A (SELE) MANE Select	ENSP00000331736.7:p.Thr146Lys
ENST00000333360.11:c.437C>A (SELE)	ENSP00000331736.7:p.Thr146Lys
ENST00000367774.1:c.437C>A (SELE)	ENSP00000356748.1:p.Thr146Lys
ENST00000367775.5:c.437C>A (SELE)	ENSP00000356749.1:p.Thr146Lys
ENST00000367776.5:c.437C>A (SELE)	ENSP00000356750.1:p.Thr146Lys
ENST00000367777.5:c.437C>A (SELE)	ENSP00000356751.1:p.Thr146Lys
ENST00000461085.1:n.120C>A (SELE)
ENST00000498289.5:n.851+47995G>T (FIRRM)
NM_000450.2:c.437C>A (SELE) MANE Select	NP_000441.2:p.Thr146Lys